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Newborn Genomic Sequencing Can Identify Disease Risk

Sequencing detects risk for disorders not anticipated based on infants' known clinical, family history


THURSDAY, Jan. 3, 2019 (HealthDay News) -- Newborn genomic sequencing (nGS) can detect the risk for disease onset during childhood and actionable adult-onset disease, according to a study published in the Jan. 3 issue of the American Journal of Human Genetics.

Ozge Ceyhan-Birsoy, Ph.D., from the Memorial Sloan Kettering Cancer Center in New York City, and colleagues conducted a randomized trial to examine childhood-onset and actionable adult-onset disease risk, carrier status, and pharmacogenomics findings from nGS of 159 newborns.

The researchers found that 9.4 percent of 159 newborns had a risk for disease-onset during childhood; none of the disease risks were predicted by infants' known clinical or family histories. Actionable adult-onset disease risk was revealed in 3.5 percent of 85 newborns whose parents agreed to receive this information. Overall, 88 and 5 percent of newborns had carrier status for recessive diseases and pharmacogenomics variants, respectively. Indication-based analyses were performed in 91 percent of 32 neonatal intensive care unit newborns and in 5 percent of 127 healthy newborns who subsequently had presentations prompting a diagnostic analysis. No variants were identified that sufficiently explained the reason for the indications; five newborns had suspicious but uncertain results. In 8 percent of newborns, testing parental samples contributed to the interpretation and reporting of results.

"Although detecting disease risk for many actionable early-onset conditions would be beneficial in improving health outcomes potential health care costs and psychosocial impacts need to be considered in the development of best practices for nGS," the authors write.

One author disclosed financial ties to the biopharmaceutical industry.

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